Conflict of interest: none.
Delineation of a region responsible for panhypopituitarism in 20p11.2
Article first published online: 8 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1547–1554, July 2013
How to Cite
2013. Delineation of a region responsible for panhypopituitarism in 20p11.2. Am J Med Genet Part A 161A:1547–1554., , , , , , .
- Issue published online: 19 JUN 2013
- Article first published online: 8 MAY 2013
- Manuscript Accepted: 18 DEC 2012
- Manuscript Received: 12 OCT 2012
- French Ministry of Health. Grant Number: DHOS 2007–2008
- 20p11 deletion;
- intellectual disability;
- developmental delay;
- Shh signaling pathway
We report on the case of a young woman with a de novo 20p11.21p11.23 deletion, discovered by array-CGH. She has behavioral troubles with autistic traits, intellectual disability, panhypopituitarism, severe hypoglycemia, epilepsy, and scoliosis. The majority of the reported 20p deletions are located on the 20p12 region, covering the JAG1 gene responsible for the Alagille syndrome. More proximal deletions are even rarer, with very few cases described in the literature to date. The deletion carried by our patient is, to our knowledge, the smallest described de novo proximal 20p11.2 deletion. It was first discovered by 0.5 Mb BAC array-CGH, further delineated using an oligonucleotide array, and finally confirmed by fluorescence in situ hybridization. The deletion is 4.22 Mb in size, with the exact location on chr20: 19.810.034–24.031.344 (Feb. 2009, GRCh37/hg19). In light of the other reported cases that display genomic and phenotypic overlap with our patient, we discuss the phenotype of our patient, in order to further delineate the 20p proximal deletion phenotype. We propose a minimal critical region responsible for panhypopituitarism with global developmental delay, intellectual disability, scoliosis and facial dysmorphism. Moreover, considering the deleted genes, we highlight the impact of the deletion of this minimal critical region on the Shh signaling pathway. © 2013 Wiley Periodicals, Inc.